No paralogue variants have been mapped to residue 1200 for CACNA1C.
| CACNA1C | --QCV---EYAL------KARP-------L>R<RYIPK--NQHQYKVWYVVNSTYFEYLMFVL | 1228 |
| CACNA1A | --ACI---DFAI------SAKP-------L>T<RHMPQNKQSFQYRMWQFVVSPPFEYTIMAM | 1575 |
| CACNA1B | --ACI---DFAI------SAKP-------L>T<RYMPQNRQSFQYKTWTFVVSPPFEYFIMAM | 1481 |
| CACNA1D | --QCV---EYAL------KARP-------L>R<RYIPK--NPYQYKFWYVVNSSPFEYMMFVL | 1234 |
| CACNA1E | --ACI---DFAI------SAKP-------L>T<RYMPQNRHTFQYRVWHFVVSPSFEYTIMAM | 1487 |
| CACNA1F | --QCV---EYAL------KAQP-------L>R<RYIPK--NPHQYRVWATVNSAAFEYLMFLL | 1199 |
| CACNA1G | RRNLML--DDVI-----ASGSSASAASEAQ>C<KPYYSDYSRFRLLVHHLCTSHYLDLFITGV | 1620 |
| CACNA1H | --RLRRLERRRRSTFPSPEAQ--------->R<RPYYADYSPTRRSIHSLCTSHYLDLFITFI | 1626 |
| CACNA1I | --RLRRLEKKRR------KAQ--------->R<LPYYATYCHTRLLIHSMCTSHYLDIFITFI | 1496 |
| CACNA1S | --QCV---QYAL------KARP-------L>R<CYIPK--NPYQYQVWYIVTSSYFEYLMFAL | 1127 |
| SCN10A | --NAM---KK-L----G-SKKP-------->Q<KPIPRPLNKFQGFVFDIVTRQAFDITIMVL | 1485 |
| SCN11A | --NAM---KK-L----G-SKKP-------->Q<KPIPRPLNKCQGLVFDIVTSQIFDIIIISL | 1375 |
| SCN1A | --NAM---KK-L----G-SKKP-------->Q<KPIPRPGNKFQGMVFDFVTRQVFDISIMIL | 1550 |
| SCN2A | --NAM---KK-L----G-SKKP-------->Q<KPIPRPANKFQGMVFDFVTKQVFDISIMIL | 1540 |
| SCN3A | --NAM---KK-L----G-SKKP-------->Q<KPIPRPANKFQGMVFDFVTRQVFDISIMIL | 1535 |
| SCN4A | --NAM---KK-L----G-SKKP-------->Q<KPIPRPQNKIQGMVYDLVTKQAFDITIMIL | 1362 |
| SCN5A | --NAM---KK-L----G-SKKP-------->Q<KPIPRPLNKYQGFIFDIVTKQAFDVTIMFL | 1537 |
| SCN7A | --RRL---KK-L----M-YEDS-------->Q<RPVPRPLNKLQGFIFDVVTSQAFNVIVMVL | 1260 |
| SCN8A | --NAM---KK-L----G-SKKP-------->Q<KPIPRPLNKIQGIVFDFVTQQAFDIVIMML | 1531 |
| SCN9A | --NAM---KK-L----G-SKKP-------->Q<KPIPRPGNKIQGCIFDLVTNQAFDISIMVL | 1513 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R1200Q | c.3599G>A | Putative Benign | rs369686855 | SIFT: deleterious Polyphen: possibly damaging |